Technological advance has greatly reduced the cost of genetic information to the point where it is possible to contemplate individual genome sequencing. Coupled with the enormous increase in available genetic data, there has been an ongoing effort into the assessment of associations between human genetic variation, physiology, and disease risk. As an increasing number of individual genome sequences are made available, there can be an evaluation of the biological, population, medical, and physical data for association statistics. This pool of combined data may provide for further information on the kinds and levels of variation that exist generally throughout and between individual genomes.
Individual genome information has the potential for personal health benefits by providing the information content of a large number of individual genetic tests, which may predict risk for serious disease. The availability of such knowledge can be utilized in further testing, medical intervention, and long term surveillance for signs of disease development.
However, the explanatory power and path to clinical translation of risk estimates for common variants reported in genome-wide association studies remain unclear. Much of the reason lies in the presence of rare and structural genetic variation. With the availability of rapid an inexpensive sequencing of complete genomes, comprehensive genetic risk assessment and individualization of treatment might be possible. However, present analytical methods are insufficient to make genetic data accessible in a clinical context, and the clinical usefulness of these data for individual patients has not been formally assessed. The present invention addresses the integrated analysis of a complete human genome in a clinical context.